rs1579937471 Rat Genome Database

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Variant: rs1579937471 -  Homo sapiens

RGD ID: 21069091
RS ID: rs1579937471
ClinVar ID: CV795713
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MOCS2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 52,404,413
GRCh38 5 53,108,583
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_176806.4:c.79T>C
NP_789776.1:p.Ser27Pro
NM_004531.5:c.-109T>C
NG_008435.2:g.6186T>C
More... 		05/01/2016 5 prime utr variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:MOCS2
Accession:NM_004531
Location:5UTRS;EXON

Gene Symbol:MOCS2
Accession:NM_176806
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPLCQVEVLYFAKSAEITGVRSETIPVPQEIKALQLWKEIETRHPGLADVRNQIIFAVRQEYVELGDQLLVLQPGDEIA
VIPPISGG*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000998388 CLINVAR
dbSNP (RS) rs1579937471 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MOCS2 CLINVAR
OMIM 603708 CLINVAR